Property Summary

NCBI Gene PubMed Count 39
Grant Count 77
R01 Count 39
Funding $6,693,491.34
PubMed Score 337.25
PubTator Score 208.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.700 0.000

Synonym

Accession Q13326 Q32M32 Q5T9J6 Gamma-SG
Symbols A4
MAM
DMDA
SCG3
35DAG
DAGA4
DMDA1
LGMD2C
SCARMD2
gamma-SG

Gene

PANTHER Protein Class (1)

Gene RIF (15)

PMID Text
25605665 These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus.
24552312 Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population.
24534832 A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation.
23300278 Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis]
22524166 The C allele of the c.-94C>G polymorphism in delta-sarcoglycan is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20350330 The relative incidence of LGMD2C among Japanese Duchenne muscular dystrophy-like patients can be calculated as 1 in 161 patients suspected to have Duchenne muscular dystrophy.
20345928 four Greek Gypsy patients with limb girdle muscular dystrophy type 2C carried the same homozygous C283Y mutation in the gamma-sarcoglycan gene
19770540 This study, the first mutational analysis of Indian patients with sarcoglycanopathies suggests gamma SG mutations were the most common and the most prevalent mutation in the gamma SG gene was 525del.T.
18996010 The limb-girdle muscular dystrophy patients with gamma-sarcoglycan deficient LGMD2C do not enable an accurate prediction of the genotype.
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AA Sequence

MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGH      1 - 70
LCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQF     71 - 140
QINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVH    141 - 210
IQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVS    211 - 280
TTCQEHNHICL                                                               281 - 291
//

Text Mined References (39)

PMID Year Title
25605665 2015 Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
24552312 2014 Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
24534832 2014 Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
22524166 2012 A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy.
22004471 2012 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
21738484 2011 Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
21668797 2011 A genome-wide association study of DSM-IV cannabis dependence.
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